Meckel syndrome, type 1
MONDO:0009571Mondo
Findings
No curated finding names Meckel syndrome, type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009571), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Second trimester onset
HPO, annotations 2026-09-02
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Agenesis of corpus callosumHPOHP:0001274
- 4 of 4 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Broad foreheadHPOHP:0000337
- 1 of 1 reported patient
- Camptodactyly of fingerHPOHP:0100490
- 1 of 1 reported patient
- Delayed ability to sitHPOHP:0025336
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
Show the remaining 15
- Malformation of the hepatic ductal plateHPOHP:0006563
- 1 of 1 reported patient
- Molar tooth sign on MRIHPOHP:0002419
- 2 of 2 reported patients
- Occipital encephaloceleHPOHP:0002085
- 9 of 9 reported patients
- Polycystic kidney dysplasiaHPOHP:0000113
- 5 of 5 reported patients
- Postaxial foot polydactylyHPOHP:0001830
- 5 of 5 reported patients
- Postaxial polydactylyHPOHP:0100259
- 3 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MKS1HGNC:7121
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
Where it sits
Other names
4 names
Resolves to: Meckel syndrome, type 1
- Also called
- Meckel syndrome caused by mutation in MKS1Meckel-Gruber syndrome, type 1MKS1MKS1 Meckel syndrome